Volume of Resected Stomach as a Predictor of Excess Weight Loss After Sleeve Gastrectomy

Background

Laparoscopic sleeve gastrectomy (LSG) is gaining popularity for the treatment of obesity. The objective of this study was to evaluate the volume of the resected stomach (VRS) as a predictor of the percentage of excess weight loss (%EWL) 1 year after LSG.

Methods

This was a single-surgeon study of prospectively collected data of patients who underwent LSG at Jordan University Hospital (February 2009 to February 2012). The VRS was measured using a standardized technique. The %EWL was calculated at 3, 6, and 12 months postoperatively. The correlation between the VRS and %EWL was statistically evaluated.

Results

Ninety patients underwent LSG during the study period. Of these, 73 patients (57 female) completed at least 1 year of follow-up and were analyzed; their body mass index was 45?±?7.6 kg/m² (33–81). The VRS was 1,337.4?±?435.2 ml (600–2,800). The %EWL was 33.6?±?11.1 % at 3 months, 48.6?±?15.5 % at 6 months, and 56.8?±?18.9 % at 12 months. A significant correlation was observed between the VRS and %EWL at 1 year (p?=?0.003). Patients with a VRS of >1,100 ml (n?=?43) achieved significantly greater %EWL at 12 months than did those with a VRS of ≤1,100 (n?=?30). Removal of >1,100 ml of gastric volume was associated with a sensitivity and specificity of 75.5 and 46.2 %, respectively, for achieving a %EWL of ≥50 %.

Conclusion

The VRS can be used as an indicator of excess weight loss 1 year after LSG.     

Genetic basis of neurodevelopmental disorders in 103 Jordanian families

We recruited 103 families from Jordan with neurodevelopmental disorders (NDD) and patterns of inheritance mostly suggestive of autosomal recessive inheritance. In each family, we investigated at least one affected individual using exome sequencing and an in-house diagnostic variant interpretation pipeline including a search for copy number variation. This approach led us to identify the likely molecular defect in established disease genes in 37 families. We could identify 25 pathogenic nonsense and 11 missense variants as well as 3 pathogenic copy number variants and 1 repeat expansion. Notably, 11 of the disease-causal variants occurred de novo. In addition, we prioritized a homozygous frameshift variant in PUS3 in two sisters with intellectual disability. To our knowledge, PUS3 has been postulated only recently as a candidate disease gene for intellectual disability in a single family with three affected siblings. Our findings provide additional evidence to establish loss of PUS3 function as a cause of intellectual disability.     

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications,prenatal diagnoses,and additional phenotypic features

Int22h1/Int22h2‐mediated Xq28 duplication syndrome is a relatively new X‐linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary manifestations include variable cognitive deficits, distinct facial dysmorphia, and neurobehavioral abnormalities that mainly include hyperactivity, irritability, and autistic behavior. Affected males are hemizygous for the duplication, which explains their often more severe manifestations compared with heterozygous females. In this report, we describe the cases of nine individuals recently identified having the syndrome, highlighting unique and previously unreported findings of this syndrome. Specifically, we report for the first time in this syndrome, two cases with de novo duplications, three receiving prenatal diagnosis with the syndrome, and three others having atypical versions of the duplication. Among the latter, one proband has a shortened version spanning only the centromeric half of the typical duplication, while the other two cases have a nearly identical length duplication as the classical duplication, with the exception that their duplication's breakpoints are telomerically shifted by about 0.2 Mb. Finally, we shed light on two new manifestations in this syndrome, vertebral anomalies and multiple malignancies, which possibly expand the phenotypic spectrum of the syndrome.     

Transesophageal echocardiography-guided transvenous endomyocardial biopsy used to diagnose primary cardiac angiosarcoma

Primary cardiac tumors are rare clinical entities with the histologic diagnosis usually made from surgically obtained tissue or at postmortem examination. Transvenous endomyocardial biopsy has been used less frequently, under fluoroscopic or transthoracic echocardiographic guidance. In this case report, we utilized the transesophageal echocardiography to guide the endomyocardial biopsy from a right atrial tumor in a 35-year-old man. © 1996 Wiley-Liss, Inc.     

Iatrogenic Right Atrial Thrombus Complicated by Pulmonary Embolism: Management and Outcomes

Right atrial thrombus can originate from distal venous sources or can be iatrogenic, secondary to the placement of central venous catheters, atrial devices, or surgeries. One of the most common complications of Central Venous Catheters (CVCs) is thromboembolism, which can be either fixed to the right atrium or can be free-floating. Device-related Right Atrial Thrombosis (RAT) can result in catheter occlusion, vascular occlusion, infection, and pulmonary embolism. The true incidence of these complications is unknown because the diagnosis may not be considered in asymptomatic patients, and it might be missed by Transthoracic Echocardiography (TTE). In this literature review, we discuss iatrogenic etiologies of RAT that is complicated by pulmonary embolism. We highlight the importance of maintaining a high index of suspicion of iatrogenic RAT, possible complications, and its management.     

Cancer-related changes and low-to-moderate exposure to welding fumes: A longitudinal study

ObjectiveThis study tested for an association between early cancer-related biomarkers and low-to-moderate exposure to fumes from welding mild steel.MethodsMale, non-smoking participants from southern Sweden were recruited and examined (N=338, 171 welders and 167 controls); of these, 78 welders and 96 controls were examined on two occasions six years apart. Exposure to welding fumes was evaluated by measuring respirable dust, welding years, and cumulative exposure. DNA methylation of CpG sites within the cancer-related genes AHRR, F2RL3, and B3GNTL1 was measured by pyrosequencing and relative mitochondrial DNA copy number and telomere length were measured by qPCR in whole-blood samples. Multivariate models were used for longitudinal analysis.ResultsMedian exposure to respirable dust was 0.7 mg/m³ at both timepoints, adjusted for use of personal protective equipment. Compared with controls, welders showed a significant decrease over time in DNA methylation of B3GNTL1 CpG1 and CpG4 [adjusted for age, body mass index, and smoking: β=-0.66, standard error (SE)=0.28; β=-0.48, SE=0.24, respectively]. In addition, exposure to respirable dust and cumulative exposure was associated with a decrease in methylation of F2RL3 CpG2 among all welders (adjusted β=-0.67, SE=0.23 and β=-0.03, SE=0.02, respectively). No significant associations were found for AHRR, mitochondrial DNA copy number, or telomere length.ConclusionLow-to-moderate exposure to welding fumes was associated with a small effect on selected early epigenetic biomarkers of cancer. The direction of the methylation pattern (lower methylation of specific CpG sites) indicates early lung cancer-related changes associated with mild steel welding.